A female case of Sedaghatian type spondylometaphyseal dysplasia
| Autor: | Tessa Lancaster, Steven Cade, I. Karen Temple, Charlotte Groves, Jo Fairhurst, Nicola Foulds |
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| Rok vydání: | 2003 |
| Předmět: |
Rhizomelic limb shortening
medicine.medical_specialty Pediatrics Autosomal recessive inheritance business.industry Lethal skeletal dysplasia Metaphyseal cupping Infant Newborn medicine.disease Osteochondrodysplasias Osteochondrodysplasia United Kingdom Radiography Endocrinology Fatal Outcome Spondylometaphyseal dysplasia Original report Internal medicine Medicine Humans Platyspondyly Female business Genetics (clinical) |
| Zdroj: | American journal of medical genetics. Part A. (4) |
| ISSN: | 1552-4825 |
| Popis: | Sedaghatian type spondylometaphyseal dysplasia is a rare osteochondrodysplasia first described in 1980. The original report describes an Iranian infant with mild rhizomelic limb shortening, severe metaphyseal cupping and irregularity and platyspondyly who died shortly after birth. The baby was born to a consanguineous couple who had reportedly had two similarly affected infants, one male and one female. No documented radiology is available on the female infant. Since this publication, 10 further case reports of male infants with this condition have appeared in the literature all of whom have died shortly after birth. We report a fully documented female case of Sedaghatian type spondylometaphyseal dysplasia providing further evidence to support an autosomal recessive mechanism of inheritance. |
| Databáze: | OpenAIRE |
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